CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

Author:

Karti Omer,Abali Saygin,Ayhan Ziya,Gokmeydan Eylem,Nalcaci Serhad,Yaman Aylin,Saatci Ali Osman

Publisher

Elsevier BV

Subject

Ophthalmology

Reference18 articles.

1. Makulaaffektion vergesellschaftet mit Haarabnormalitat von anugotypus, beide vielleicht angeboren bei zwei Geschwistern;Wagner;Graefes Arch Klin Exp Ophthalmol,1935

2. CDH3 -related syndromes: report on a new mutation and overview of the genotype-phenotype correlations;Basel Vanagaite;Mol Syndromol,2010

3. To grow or not to grow: hair morphogenesis and human genetic hair disorders;Duverger;Semin Cell Dev Biol,2014

4. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin;Sprecher;Nat Genet,2001

5. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome);Kjaer;J MedGenet,2005

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